A12P (p.Ala12Pro) variant of CASR (P41180)
A12P (p.Ala12Pro) in CASR (P41180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A12P (p.Ala12Pro) variant details
- p.Ala12Pro
- gnomAD 3-122254223-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- CADD 19.70
- PolyPhen-2 0.39
- SIFT 0.10
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available