D31G (p.Asp31Gly) variant of CASR (P41180)
D31G (p.Asp31Gly) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
D31G (p.Asp31Gly) variant details
- p.Asp31Gly
- rs1064795924
- ClinGen CA16617811
- ClinVar RCV000478034
- TOPMed rs1064795924
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- AlphaMissense 0.89
- MetaLR 0.83
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.59
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available