N8N (p.Asn8Asn) variant of SLC12A1 (Q13621)
N8N (p.Asn8Asn) in SLC12A1 (Q13621) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
N8N (p.Asn8Asn) variant details
- p.Asn8Asn
- gnomAD 15-48207743-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0996
- CADD 2.68
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Literature evidence available