R10L (p.Arg10Leu) variant of PMS1 (PMS1 protein homolog 1)
R10L (p.Arg10Leu) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R10L (p.Arg10Leu) variant details
- p.Arg10Leu
- gnomAD 2-189791838-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.90
- CADD 31.00
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score 0.694
- Literature evidence available