A37V (p.Ala37Val) variant of PMS1 (PMS1 protein homolog 1)
A37V (p.Ala37Val) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A37V (p.Ala37Val) variant details
- p.Ala37Val
- Ensembl rs2106213330
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.89
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- 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 -0.459