V64I (p.Val64Ile) variant of PMS1 (PMS1 protein homolog 1)
V64I (p.Val64Ile) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V64I (p.Val64Ile) variant details
- p.Val64Ile
- TOPMed rs1401716323
- gnomAD rs1401716323
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.25
- CADD 4.56
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score 0.0349