G2D (p.Gly2Asp) variant of ABCA4 (P78363)
G2D (p.Gly2Asp) in ABCA4 (P78363) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
G2D (p.Gly2Asp) variant details
- p.Gly2Asp
- rs764311517
- NCI-TCGA Cosmic COSV6467
- ExAC rs764311517
- gnomAD rs764311517
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- AlphaMissense 0.12
- MetaLR 0.81
- MetaSVM 0.69
- PolyPhen-2 0.88
- SIFT 0.03
- MutPred 0.29
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available