K28N (p.Lys28Asn) variant of CASR (P41180)
K28N (p.Lys28Asn) 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 0.43 / 1. The record also includes population frequency data and structural context.
K28N (p.Lys28Asn) variant details
- p.Lys28Asn
- rs1290990935
- ClinGen CA354362096
- NCI-TCGA Cosmic COSV5613
- cosmic curated COSV56136
- Uncertain significance
- Nephrolithiasis/nephrocalcinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- CADD 25.40
- PolyPhen-2 0.67
- SIFT 0.01
- ClinVar: Uncertain significance (Nephrolithiasis/nephrocalcinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available