K40T (p.Lys40Thr) variant of ATP7A (Copper-transporting ATPase 1)
K40T (p.Lys40Thr) in ATP7A (Copper-transporting ATPase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscula. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
K40T (p.Lys40Thr) variant details
- p.Lys40Thr
- rs1557229686
- ClinGen CA413597872
- ClinVar RCV001345021
- ClinVar RCV001825908
- Uncertain significance
- Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscula
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.56
- CADD 23.00
- PolyPhen-2 0.03
- SIFT 0.22
- ClinVar: Uncertain significance (Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked dista)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 5.7e-05)
- Structural context available
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)
- Cited in: Clinical utility gene card for: Menkes disease. (PMID 21487442)