N3D (p.Asn3Asp) variant of SLC8A1 (Sodium/calcium exchanger 1)
N3D (p.Asn3Asp) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
N3D (p.Asn3Asp) variant details
- p.Asn3Asp
- rs747307904
- ClinGen CA1627824
- ClinVar RCV004293091
- ExAC rs747307904
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.04
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.68
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available