S21F (p.Ser21Phe) variant of MLH3 (DNA mismatch repair protein Mlh3)
S21F (p.Ser21Phe) in MLH3 (DNA mismatch repair protein Mlh3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
S21F (p.Ser21Phe) variant details
- p.Ser21Phe
- ExAC rs771802126
- gnomAD rs771802126
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.59
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available