S32F (p.Ser32Phe) variant of PMS1 (PMS1 protein homolog 1)
S32F (p.Ser32Phe) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S32F (p.Ser32Phe) variant details
- p.Ser32Phe
- gnomAD 2-189791904-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- REVEL 0.95
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.251
- Literature evidence available