V64F (p.Val64Phe) variant of PMS1 (PMS1 protein homolog 1)
V64F (p.Val64Phe) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V64F (p.Val64Phe) variant details
- p.Val64Phe
- gnomAD 2-189795826-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.35
- CADD 14.10
- PolyPhen-2 0.19
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score 0.0349
- Literature evidence available