V58E (p.Val58Glu) variant of CASR (P41180)
V58E (p.Val58Glu) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes structural context.
V58E (p.Val58Glu) variant details
- p.Val58Glu
- rs2107625078
- ClinGen CA354362290
- ClinVar RCV001779506
- Ensembl rs2107625078
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- AlphaMissense 0.29
- MetaLR 0.51
- MetaSVM -0.06
- PolyPhen-2 0.45
- SIFT 0.22
- EVE 0.11
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available