C6S (p.Cys6Ser) variant of CASR (P41180)
C6S (p.Cys6Ser) in CASR (P41180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
C6S (p.Cys6Ser) variant details
- p.Cys6Ser
- gnomAD 3-122254205-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- CADD 16.50
- PolyPhen-2 0.01
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available