M47T (p.Met47Thr) variant of MLH3 (DNA mismatch repair protein Mlh3)
M47T (p.Met47Thr) in MLH3 (DNA mismatch repair protein Mlh3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
M47T (p.Met47Thr) variant details
- p.Met47Thr
- gnomAD rs1290668915
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.22
- CADD 25.50
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available