S24N (p.Ser24Asn) variant of SLC12A1 (Q13621)
S24N (p.Ser24Asn) in SLC12A1 (Q13621) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S24N (p.Ser24Asn) variant details
- p.Ser24Asn
- rs35342218
- ClinGen CA7546683
- ClinVar RCV000959217
- 1000Genomes rs35342218
- Benign/Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.22
- MetaLR 0.26
- MetaSVM -0.83
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign/Likely benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MBUTI population (allele frequency 0.38)
- Structural context available