V24I (p.Val24Ile) variant of PMS1 (PMS1 protein homolog 1)
V24I (p.Val24Ile) 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 0.74 / 1. The record also includes population frequency data and structural context.
V24I (p.Val24Ile) variant details
- p.Val24Ile
- rs553130827
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10057
- 1000Genomes rs553130827
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.72
- CADD 27.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available