E30V (p.Glu30Val) variant of MSH6 (DNA mismatch repair protein Msh6)
E30V (p.Glu30Val) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
E30V (p.Glu30Val) variant details
- p.Glu30Val
- TOPMed rs963847218
- gnomAD rs963847218
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.29
- MetaLR 0.35
- MetaSVM -0.77
- CADD 17.30
- SIFT 0.19
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available