T46N (p.Thr46Asn) variant of SLC8A1 (Sodium/calcium exchanger 1)
T46N (p.Thr46Asn) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
T46N (p.Thr46Asn) variant details
- p.Thr46Asn
- cosmic curated COSV60499
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.13
- CADD 18.90
- PolyPhen-2 0.19
- SIFT 0.27
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available