Y8H (p.Tyr8His) variant of MSH6 (DNA mismatch repair protein Msh6)
Y8H (p.Tyr8His) 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 0.37 / 1. The record also includes population frequency data and structural context.
Y8H (p.Tyr8His) variant details
- p.Tyr8His
- rs781670952
- ClinGen CA068788
- ClinVar RCV003035613
- ExAC rs781670952
- Likely benign
- Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.32
- MetaLR 0.45
- MetaSVM -0.14
- CADD 24.40
- PolyPhen-2 0.09
- SIFT 0.16
- ClinVar: Likely benign (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available