D62V (p.Asp62Val) variant of SLC12A3 (P55017)
D62V (p.Asp62Val) in SLC12A3 (P55017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
D62V (p.Asp62Val) variant details
- p.Asp62Val
- rs1251732657
- ClinGen CA395977145
- ClinVar RCV003694671
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.957
- AlphaMissense 0.94
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.83
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in GTLMNS)
- UniProt: Likely pathogenic (in GTLMNS)
- Structural context available