I52V (p.Ile52Val) variant of PMS1 (PMS1 protein homolog 1)
I52V (p.Ile52Val) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I52V (p.Ile52Val) variant details
- p.Ile52Val
- gnomAD rs1463526642
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.57
- CADD 22.50
- PolyPhen-2 0.92
- SIFT 0.08
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.302