A510D (p.Ala510Asp) variant of SLC12A1 (Q13621)
A510D (p.Ala510Asp) in SLC12A1 (Q13621) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Bartter disease type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
A510D (p.Ala510Asp) variant details
- p.Ala510Asp
- cosmic curated COSV66792
- Likely pathogenic
- Bartter disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- REVEL 0.98
- MetaLR 0.98
- MetaSVM 1.05
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Bartter disease type 1)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available