D50H (p.Asp50His) variant of PMS1 (PMS1 protein homolog 1)
D50H (p.Asp50His) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
D50H (p.Asp50His) variant details
- p.Asp50His
- gnomAD rs1251106822
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.75
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available