D34N (p.Asp34Asn) variant of PMS1 (PMS1 protein homolog 1)
D34N (p.Asp34Asn) 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, published literature, and structural context.
D34N (p.Asp34Asn) variant details
- p.Asp34Asn
- gnomAD 2-189791909-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.86
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.467
- Literature evidence available