E44K (p.Glu44Lys) variant of PRPH2 (Peripherin-2)
E44K (p.Glu44Lys) in PRPH2 (Peripherin-2) 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 0.68 / 1. The record also includes population frequency data and structural context.
E44K (p.Glu44Lys) variant details
- p.Glu44Lys
- rs758924894
- NCI-TCGA Cosmic COSV5783
- ExAC rs758924894
- gnomAD rs758924894
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- AlphaMissense 0.80
- MetaLR 0.66
- MetaSVM 0.37
- SIFT 0.01
- MutPred 0.68
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available