A6V (p.Ala6Val) variant of PMS1 (PMS1 protein homolog 1)
A6V (p.Ala6Val) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- cosmic curated COSV59714
- ExAC rs747835603
- TOPMed rs747835603
- gnomAD rs747835603
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.45
- CADD 23.90
- PolyPhen-2 0.26
- SIFT 0.01
- 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 -0.925