P6S (p.Pro6Ser) variant of C9ORF72 (Q96LT7)
P6S (p.Pro6Ser) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
P6S (p.Pro6Ser) variant details
- p.Pro6Ser
- ExAC rs752995172
- TOPMed rs752995172
- gnomAD rs752995172
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.23
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available