C69F (p.Cys69Phe) variant of SLC12A1 (Q13621)
C69F (p.Cys69Phe) in SLC12A1 (Q13621) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
C69F (p.Cys69Phe) variant details
- p.Cys69Phe
- rs143141941
- ClinGen CA7546707
- ClinVar RCV000879871
- 1000Genomes rs143141941
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.21
- MetaLR 0.45
- MetaSVM -0.17
- CADD 19.20
- PolyPhen-2 0.03
- SIFT 0.21
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MSL population (allele frequency 0.019)
- Structural context available