P7S (p.Pro7Ser) variant of C9ORF72 (Q96LT7)
P7S (p.Pro7Ser) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
P7S (p.Pro7Ser) variant details
- p.Pro7Ser
- gnomAD rs1819486494
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.31
- AlphaMissense 0.59
- MetaLR 0.28
- MetaSVM -0.70
- CADD 25.30
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available