D41A (p.Asp41Ala) variant of PMS1 (PMS1 protein homolog 1)
D41A (p.Asp41Ala) 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, experimental measurements, and structural context.
D41A (p.Asp41Ala) variant details
- p.Asp41Ala
- cosmic curated COSV10463
- ExAC rs545600556
- TOPMed rs545600556
- gnomAD rs545600556
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.83
- CADD 29.20
- PolyPhen-2 0.61
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.59