P47S (p.Pro47Ser) variant of ABCA4 (P78363)
P47S (p.Pro47Ser) 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 0.79 / 1. The record also includes population frequency data and structural context.
P47S (p.Pro47Ser) variant details
- p.Pro47Ser
- NCI-TCGA Cosmic COSV6467
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.84
- MetaLR 0.86
- MetaSVM 0.86
- CADD 26.10
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available