I61V (p.Ile61Val) variant of PMS1 (PMS1 protein homolog 1)
I61V (p.Ile61Val) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I61V (p.Ile61Val) variant details
- p.Ile61Val
- gnomAD rs1330142638
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.40
- CADD 17.70
- PolyPhen-2 0.23
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.256