K52Q (p.Lys52Gln) variant of CASR (P41180)
K52Q (p.Lys52Gln) in CASR (P41180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
K52Q (p.Lys52Gln) variant details
- p.Lys52Gln
- gnomAD 3-122254343-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- CADD 18.40
- PolyPhen-2 0.13
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available