G72D (p.Gly72Asp) variant of ATP6V1A (P38606)
G72D (p.Gly72Asp) in ATP6V1A (P38606) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive cutis laxa type 2D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
G72D (p.Gly72Asp) variant details
- p.Gly72Asp
- rs1060505037
- ClinGen CA16616874
- NCI-TCGA Cosmic COSV5636
- ClinVar RCV000477689
- Pathogenic
- Autosomal recessive cutis laxa type 2D
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- AlphaMissense 0.79
- MetaLR 0.93
- MetaSVM 1.04
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.57
- ClinVar: Pathogenic (Autosomal recessive cutis laxa type 2D)
- EBI: Pathogenic (in ARCL2D)
- UniProt: Pathogenic (in ARCL2D)
- Structural context available
- Cited in: Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. (PMID 28065471)