S15F (p.Ser15Phe) variant of PMS1 (PMS1 protein homolog 1)
S15F (p.Ser15Phe) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S15F (p.Ser15Phe) variant details
- p.Ser15Phe
- gnomAD 2-189791853-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.86
- CADD 26.90
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.408
- Literature evidence available