D167H (p.Asp167His) variant of C9ORF72 (Q96LT7)
D167H (p.Asp167His) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
D167H (p.Asp167His) variant details
- p.Asp167His
- ExAC rs754495907
- gnomAD rs754495907
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.18
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.12
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available