T17I (p.Thr17Ile) variant of CASR (P41180)
T17I (p.Thr17Ile) 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; Epilepsy, idiopathic generalized, susceptibili. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
T17I (p.Thr17Ile) variant details
- p.Thr17Ile
- rs1424489717
- ClinGen CA354362028
- ClinVar RCV000800988
- ClinVar RCV004028045
- Uncertain significance
- Nephrolithiasis/nephrocalcinosis; Epilepsy, idiopathic generalized, susceptibili
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- CADD 2.77
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Uncertain significance (Nephrolithiasis/nephrocalcinosis; Epilepsy, idiopathic generaliz)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available