V64A (p.Val64Ala) variant of PMS1 (PMS1 protein homolog 1)
V64A (p.Val64Ala) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V64A (p.Val64Ala) variant details
- p.Val64Ala
- gnomAD 2-189795827-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.13
- CADD 7.69
- PolyPhen-2 0.00
- SIFT 0.69
- 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
- Literature evidence available