D73N (p.Asp73Asn) variant of SLC8A1 (Sodium/calcium exchanger 1)
D73N (p.Asp73Asn) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
D73N (p.Asp73Asn) variant details
- p.Asp73Asn
- ESP rs372921563
- ExAC rs372921563
- gnomAD rs372921563
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.42
- CADD 25.90
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available