N5N (p.Asn5Asn) variant of SLC12A1 (Q13621)
N5N (p.Asn5Asn) in SLC12A1 (Q13621) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
N5N (p.Asn5Asn) variant details
- p.Asn5Asn
- gnomAD 15-48207734-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.418
- CADD 7.61
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available