H16R (p.His16Arg) variant of CASR (P41180)
H16R (p.His16Arg) in CASR (P41180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
H16R (p.His16Arg) variant details
- p.His16Arg
- gnomAD 3-122254236-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- CADD 1.34
- PolyPhen-2 0.04
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available