F30Y (p.Phe30Tyr) variant of C9ORF72 (Q96LT7)
F30Y (p.Phe30Tyr) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
F30Y (p.Phe30Tyr) variant details
- p.Phe30Tyr
- gnomAD rs1186209274
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.22
- CADD 24.00
- PolyPhen-2 0.73
- SIFT 0.28
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available