H41R (p.His41Arg) variant of CASR (P41180)
H41R (p.His41Arg) in CASR (P41180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
H41R (p.His41Arg) variant details
- p.His41Arg
- gnomAD 3-122254311-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available