Y8F (p.Tyr8Phe) variant of MSH6 (DNA mismatch repair protein Msh6)
Y8F (p.Tyr8Phe) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
Y8F (p.Tyr8Phe) variant details
- p.Tyr8Phe
- rs1572697757
- ClinGen CA346734501
- ClinVar RCV001051650
- TOPMed rs1572697757
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.20
- MetaLR 0.23
- MetaSVM -0.85
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available