H16D (p.His16Asp) variant of CASR (P41180)
H16D (p.His16Asp) in CASR (P41180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
H16D (p.His16Asp) variant details
- p.His16Asp
- gnomAD 3-122254235-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0568
- CADD 0.41
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available