S53L (p.Ser53Leu) variant of CASR (P41180)
S53L (p.Ser53Leu) in CASR (P41180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
S53L (p.Ser53Leu) variant details
- p.Ser53Leu
- cosmic curated COSV56139
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- CADD 23.10
- PolyPhen-2 0.28
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available