F3S (p.Phe3Ser) variant of MLH1 (DNA mismatch repair protein Mlh1)
F3S (p.Phe3Ser) in MLH1 (DNA mismatch repair protein Mlh1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
F3S (p.Phe3Ser) variant details
- p.Phe3Ser
- gnomAD 3-36993555-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available
- Literature evidence available