S76N (p.Ser76Asn) variant of MLH3 (DNA mismatch repair protein Mlh3)
S76N (p.Ser76Asn) in MLH3 (DNA mismatch repair protein Mlh3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
S76N (p.Ser76Asn) variant details
- p.Ser76Asn
- gnomAD rs1450527073
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.86
- CADD 25.20
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available