D31N (p.Asp31Asn) variant of CASR (P41180)
D31N (p.Asp31Asn) in CASR (P41180) is a missense change. Clinical records from ClinVar 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 0.79 / 1. The record also includes population frequency data and structural context.
D31N (p.Asp31Asn) variant details
- p.Asp31Asn
- NCI-TCGA Cosmic COSV5613
- cosmic curated COSV56138
- Uncertain significance
- Nephrolithiasis/nephrocalcinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- CADD 27.90
- PolyPhen-2 0.80
- SIFT 0.02
- ClinVar: Uncertain significance (Nephrolithiasis/nephrocalcinosis)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available