S13L (p.Ser13Leu) variant of PMS1 (PMS1 protein homolog 1)
S13L (p.Ser13Leu) in PMS1 (PMS1 protein homolog 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S13L (p.Ser13Leu) variant details
- p.Ser13Leu
- rs1377084219
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10057
- TOPMed rs1377084219
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.84
- CADD 28.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.415