L10V (p.Leu10Val) variant of CASR (P41180)
L10V (p.Leu10Val) in CASR (P41180) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
L10V (p.Leu10Val) variant details
- p.Leu10Val
- TOPMed rs1327682547
- gnomAD rs1327682547
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- CADD 12.90
- PolyPhen-2 0.01
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available