P47S (p.Pro47Ser) variant of C9ORF72 (Q96LT7)
P47S (p.Pro47Ser) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
P47S (p.Pro47Ser) variant details
- p.Pro47Ser
- cosmic curated COSV10118
- 1000Genomes rs181815263
- ESP rs181815263
- ExAC rs181815263
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.28
- AlphaMissense 0.19
- MetaLR 0.07
- MetaSVM -1.09
- CADD 22.30
- PolyPhen-2 0.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available