K72R (p.Lys72Arg) variant of PMS1 (PMS1 protein homolog 1)
K72R (p.Lys72Arg) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
K72R (p.Lys72Arg) variant details
- p.Lys72Arg
- gnomAD 2-189795851-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.23
- CADD 22.90
- PolyPhen-2 0.24
- SIFT 0.40
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available