A27D (p.Ala27Asp) variant of MSH6 (DNA mismatch repair protein Msh6)
A27D (p.Ala27Asp) 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 0.38 / 1. The record also includes population frequency data and structural context.
A27D (p.Ala27Asp) variant details
- p.Ala27Asp
- rs1668116728
- ClinGen CA346734799
- ClinVar RCV001294367
- Ensembl rs1668116728
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.27
- MetaLR 0.55
- MetaSVM -0.01
- CADD 16.10
- PolyPhen-2 0.05
- SIFT 0.57
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available