S2S (p.Ser2Ser) variant of MLH1 (DNA mismatch repair protein Mlh1)
S2S (p.Ser2Ser) in MLH1 (DNA mismatch repair protein Mlh1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S2S (p.Ser2Ser) variant details
- p.Ser2Ser
- rs757950578
- gnomAD 3-36993553-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.248
- CADD 13.50
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available