R10L (p.Arg10Leu) variant of MLH1 (DNA mismatch repair protein Mlh1)
R10L (p.Arg10Leu) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary breast ovarian cancer syndrome; Hereditary nonpolyposis colorectal ne. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R10L (p.Arg10Leu) variant details
- p.Arg10Leu
- rs777971423
- ClinGen CA352060509
- ClinVar RCV000580818
- ClinVar RCV001030559
- Uncertain significance
- Hereditary breast ovarian cancer syndrome; Hereditary nonpolyposis colorectal ne
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.81
- CADD 33.00
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary breast ovarian cancer syndrome; Hereditary nonpolypos)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available
- Cited in: American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. (PMID 12692171)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)