P7L (p.Pro7Leu) variant of C9ORF72 (Q96LT7)
P7L (p.Pro7Leu) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
P7L (p.Pro7Leu) variant details
- p.Pro7Leu
- TOPMed rs933551671
- gnomAD rs933551671
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.27
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available