N46H (p.Asn46His) variant of MLH3 (DNA mismatch repair protein Mlh3)
N46H (p.Asn46His) in MLH3 (DNA mismatch repair protein Mlh3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
N46H (p.Asn46His) variant details
- p.Asn46His
- ExAC rs765136707
- gnomAD rs765136707
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.22
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available