I61V (p.Ile61Val) variant of CASR (P41180)
I61V (p.Ile61Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes structural context.
I61V (p.Ile61Val) variant details
- p.Ile61Val
- rs2074531605
- ClinGen CA354362307
- ClinVar RCV004059369
- Uncertain significance
- Nephrolithiasis/nephrocalcinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- AlphaMissense 0.14
- MetaLR 0.42
- MetaSVM -0.44
- PolyPhen-2 0.03
- SIFT 0.69
- EVE 0.09
- ClinVar: Uncertain significance (Nephrolithiasis/nephrocalcinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available