I32L (p.Ile32Leu) variant of CASR (P41180)
I32L (p.Ile32Leu) 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.
I32L (p.Ile32Leu) variant details
- p.Ile32Leu
- gnomAD 3-122254283-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- CADD 23.90
- PolyPhen-2 0.28
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available