N72N (p.Asn72Asn) variant of SLC12A1 (Q13621)
N72N (p.Asn72Asn) in SLC12A1 (Q13621) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
N72N (p.Asn72Asn) variant details
- p.Asn72Asn
- rs2041001270
- gnomAD 15-48207935-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.206
- CADD 8.51
- Population evidence available
- Structural context available
- Literature evidence available