A30T (p.Ala30Thr) variant of MLH3 (DNA mismatch repair protein Mlh3)
A30T (p.Ala30Thr) in MLH3 (DNA mismatch repair protein Mlh3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A30T (p.Ala30Thr) variant details
- p.Ala30Thr
- gnomAD rs1173241120
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.27
- CADD 17.20
- PolyPhen-2 0.04
- SIFT 0.13
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available