P5S (p.Pro5Ser) variant of PMS1 (PMS1 protein homolog 1)
P5S (p.Pro5Ser) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P5S (p.Pro5Ser) variant details
- p.Pro5Ser
- Ensembl rs2106212504
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.29
- CADD 16.20
- PolyPhen-2 0.12
- SIFT 0.27
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.73