D68N (p.Asp68Asn) variant of SLC8A1 (Sodium/calcium exchanger 1)
D68N (p.Asp68Asn) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
D68N (p.Asp68Asn) variant details
- p.Asp68Asn
- gnomAD rs1237906514
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.07
- CADD 17.80
- PolyPhen-2 0.98
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available