A20P (p.Ala20Pro) variant of MSH6 (DNA mismatch repair protein Msh6)
A20P (p.Ala20Pro) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary nonpolyposis colorectal neoplasms. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A20P (p.Ala20Pro) variant details
- p.Ala20Pro
- rs1439274983
- ClinGen CA346734565
- ClinVar RCV003040928
- gnomAD rs1439274983
- Likely benign
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.17
- MetaLR 0.32
- MetaSVM -0.70
- CADD 7.19
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Likely benign (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Likely benign (in LYNCH5, CRC and ENDMC)
- UniProt: Likely benign (in LYNCH5, CRC and ENDMC)
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available