I61M (p.Ile61Met) variant of PMS1 (PMS1 protein homolog 1)
I61M (p.Ile61Met) 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 0.57 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I61M (p.Ile61Met) variant details
- p.Ile61Met
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10057
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.68
- CADD 22.60
- PolyPhen-2 0.94
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.256