R172S (p.Arg172Ser) variant of CASR (P41180)
R172S (p.Arg172Ser) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hypocalciuric hypercalcemia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes structural context.
R172S (p.Arg172Ser) variant details
- p.Arg172Ser
- rs1114167368
- ClinGen CA354150754
- ClinVar RCV000491681
- Ensembl rs1114167368
- Uncertain significance
- Familial hypocalciuric hypercalcemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- AlphaMissense 0.77
- MetaLR 0.43
- MetaSVM -0.25
- PolyPhen-2 0.99
- SIFT 1.00
- EVE 0.11
- ClinVar: Uncertain significance (Familial hypocalciuric hypercalcemia 1)
- EBI: Variant of uncertain significance (in HHC1)
- UniProt: Uncertain significance (in HHC1)
- Structural context available