F49W (p.Phe49Trp) variant of PMS1 (PMS1 protein homolog 1)
F49W (p.Phe49Trp) in PMS1 (PMS1 protein homolog 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
F49W (p.Phe49Trp) variant details
- p.Phe49Trp
- rs1168435979
- gnomAD 2-189795775-T-TAT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.496
- CADD 27.10
- Population evidence available
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.0129
- Literature evidence available