L4S (p.Leu4Ser) variant of PMS1 (PMS1 protein homolog 1)
L4S (p.Leu4Ser) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L4S (p.Leu4Ser) variant details
- p.Leu4Ser
- 1000Genomes rs201944922
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.89
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.0911