L17V (p.Leu17Val) variant of MSH6 (DNA mismatch repair protein Msh6)
L17V (p.Leu17Val) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary nonpolyposis colorectal neoplasms. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
L17V (p.Leu17Val) variant details
- p.Leu17Val
- rs2103933185
- ClinGen CA346734545
- ClinVar RCV003863385
- Ensembl rs2103933185
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.13
- MetaLR 0.32
- MetaSVM -0.85
- CADD 8.16
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available