N29S (p.Asn29Ser) variant of SLC12A1 (Q13621)
N29S (p.Asn29Ser) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
N29S (p.Asn29Ser) variant details
- p.Asn29Ser
- gnomAD 15-48207805-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.14
- MetaLR 0.05
- MetaSVM -1.01
- CADD 1.47
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available