P24S (p.Pro24Ser) variant of C9ORF72 (Q96LT7)
P24S (p.Pro24Ser) 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.
P24S (p.Pro24Ser) variant details
- p.Pro24Ser
- Ensembl rs1171667768
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.36
- AlphaMissense 0.16
- MetaLR 0.10
- MetaSVM -1.07
- CADD 26.00
- PolyPhen-2 0.39
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available