K3T (p.Lys3Thr) variant of ATP1A1 (P05023)
K3T (p.Lys3Thr) in ATP1A1 (P05023) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Charcot-Marie-tooth disease, axonal, type 2DD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
K3T (p.Lys3Thr) variant details
- p.Lys3Thr
- rs976510541
- ClinGen CA341838779
- ClinVar RCV002273224
- Ensembl rs976510541
- Uncertain significance
- Charcot-Marie-tooth disease, axonal, type 2DD
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.32
- MetaLR 0.46
- MetaSVM -0.44
- CADD 19.90
- PolyPhen-2 0.02
- SIFT 0.35
- ClinVar: Uncertain significance (Charcot-Marie-tooth disease, axonal, type 2DD)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MANDENKA population (allele frequency 0.33)
- Structural context available