N5D (p.Asn5Asp) variant of SLC12A1 (Q13621)
N5D (p.Asn5Asp) in SLC12A1 (Q13621) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes structural context.
N5D (p.Asn5Asp) variant details
- p.Asn5Asp
- rs387907466
- ClinGen CA216072
- ClinVar RCV000054592
- Ensembl rs387907466
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- AlphaMissense 0.13
- MetaLR 0.51
- MetaSVM -0.26
- PolyPhen-2 0.06
- SIFT 0.15
- MutPred 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available