L112P (p.Leu112Pro) variant of C9ORF72 (Q96LT7)
L112P (p.Leu112Pro) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
L112P (p.Leu112Pro) variant details
- p.Leu112Pro
- ExAC rs776286891
- gnomAD rs776286891
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.71
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available