P10A (p.Pro10Ala) variant of C9ORF72 (Q96LT7)
P10A (p.Pro10Ala) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
P10A (p.Pro10Ala) variant details
- p.Pro10Ala
- ExAC rs749975238
- TOPMed rs749975238
- gnomAD rs749975238
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.29
- AlphaMissense 0.92
- MetaLR 0.27
- MetaSVM -0.70
- CADD 25.10
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available