K3R (p.Lys3Arg) variant of MLH3 (DNA mismatch repair protein Mlh3)
K3R (p.Lys3Arg) in MLH3 (DNA mismatch repair protein Mlh3) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
K3R (p.Lys3Arg) variant details
- p.Lys3Arg
- rs114829239
- ClinGen CA7276101
- cosmic curated COSV10458
- ClinVar RCV000290922
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.22
- CADD 20.60
- PolyPhen-2 0.01
- SIFT 0.21
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Lynch Syndrome. (PMID 20301390)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)