V9F (p.Val9Phe) variant of CASR (P41180)
V9F (p.Val9Phe) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Nephrolithiasis/nephrocalcinosis; Autosomal dominant hypocalcemia 1; Familial hy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
V9F (p.Val9Phe) variant details
- p.Val9Phe
- rs2074528111
- ClinGen CA354361975
- cosmic curated COSV56137
- ClinVar RCV002921996
- Uncertain significance
- Nephrolithiasis/nephrocalcinosis; Autosomal dominant hypocalcemia 1; Familial hy
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- CADD 14.90
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Nephrolithiasis/nephrocalcinosis; Autosomal dominant hypocalcemi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available