P47A (p.Pro47Ala) variant of C9ORF72 (Q96LT7)
P47A (p.Pro47Ala) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
P47A (p.Pro47Ala) variant details
- p.Pro47Ala
- 1000Genomes rs181815263
- ESP rs181815263
- ExAC rs181815263
- TOPMed rs181815263
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.24
- AlphaMissense 0.32
- MetaLR 0.08
- MetaSVM -1.07
- CADD 22.30
- PolyPhen-2 0.03
- Most common in the HGDP:MANDENKA population (allele frequency 0.05)
- Structural context available