S5T (p.Ser5Thr) variant of CASR (P41180)
S5T (p.Ser5Thr) in CASR (P41180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S5T (p.Ser5Thr) variant details
- p.Ser5Thr
- gnomAD 3-122254203-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- CADD 16.70
- PolyPhen-2 0.04
- SIFT 0.58
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Literature evidence available