S20L (p.Ser20Leu) variant of PMS1 (PMS1 protein homolog 1)
S20L (p.Ser20Leu) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S20L (p.Ser20Leu) variant details
- p.Ser20Leu
- cosmic curated COSV59718
- ExAC rs768047966
- TOPMed rs768047966
- gnomAD rs768047966
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.90
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score 0.15