H147Y (p.His147Tyr) variant of C9ORF72 (Q96LT7)
H147Y (p.His147Tyr) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
H147Y (p.His147Tyr) variant details
- p.His147Tyr
- gnomAD rs1390136699
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.27
- CADD 22.20
- PolyPhen-2 0.09
- SIFT 0.44
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available