N38D (p.Asn38Asp) variant of KCNJ10 (P78508)
N38D (p.Asn38Asp) in KCNJ10 (P78508) 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 0.89 / 1. The record also includes structural context.
N38D (p.Asn38Asp) variant details
- p.Asn38Asp
- rs1085307764
- ClinGen CA343230218
- ClinVar RCV000489850
- Ensembl rs1085307764
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- AlphaMissense 0.85
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available