D56H (p.Asp56His) variant of PMS1 (PMS1 protein homolog 1)
D56H (p.Asp56His) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D56H (p.Asp56His) variant details
- p.Asp56His
- Ensembl rs2106233047
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.98
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.316