N31T (p.Asn31Thr) variant of PMS1 (PMS1 protein homolog 1)
N31T (p.Asn31Thr) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N31T (p.Asn31Thr) variant details
- p.Asn31Thr
- gnomAD 2-189791901-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.95
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -1.53
- Literature evidence available