A168V (p.Ala168Val) variant of CASR (P41180)
A168V (p.Ala168Val) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial hypocalciuric hypercalcemia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes structural context.
A168V (p.Ala168Val) variant details
- p.Ala168Val
- rs1576857840
- ClinGen CA354150730
- cosmic curated COSV10941
- ClinVar RCV000987310
- Likely pathogenic
- Familial hypocalciuric hypercalcemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- AlphaMissense 0.91
- MetaLR 0.79
- MetaSVM 0.46
- PolyPhen-2 1.00
- SIFT 0.46
- EVE 0.41
- ClinVar: Likely pathogenic (Familial hypocalciuric hypercalcemia 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available