S80L (p.Ser80Leu) variant of MLH3 (DNA mismatch repair protein Mlh3)
S80L (p.Ser80Leu) in MLH3 (DNA mismatch repair protein Mlh3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
S80L (p.Ser80Leu) variant details
- p.Ser80Leu
- rs1566610687
- ClinGen CA390451272
- cosmic curated COSV53135
- ClinVar RCV003505278
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.56
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Lynch Syndrome. (PMID 20301390)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)