Q53P (p.Gln53Pro) variant of MLH3 (DNA mismatch repair protein Mlh3)
Q53P (p.Gln53Pro) 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.
Q53P (p.Gln53Pro) variant details
- p.Gln53Pro
- gnomAD rs1335050213
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.75
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available