K47R (p.Lys47Arg) variant of CASR (P41180)
K47R (p.Lys47Arg) in CASR (P41180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
K47R (p.Lys47Arg) variant details
- p.Lys47Arg
- gnomAD 3-122254329-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- CADD 24.50
- PolyPhen-2 0.22
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available