S76G (p.Ser76Gly) variant of MLH3 (DNA mismatch repair protein Mlh3)
S76G (p.Ser76Gly) in MLH3 (DNA mismatch repair protein Mlh3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
S76G (p.Ser76Gly) variant details
- p.Ser76Gly
- gnomAD rs1892514728
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.86
- CADD 23.30
- PolyPhen-2 0.14
- SIFT 0.05
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available