S21Y (p.Ser21Tyr) variant of MLH3 (DNA mismatch repair protein Mlh3)
S21Y (p.Ser21Tyr) 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.
S21Y (p.Ser21Tyr) variant details
- p.Ser21Tyr
- rs771802126
- ClinGen CA390451795
- ClinVar RCV004521262
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.60
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available