Y124F (p.Tyr124Phe) variant of C9ORF72 (Q96LT7)
Y124F (p.Tyr124Phe) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
Y124F (p.Tyr124Phe) variant details
- p.Tyr124Phe
- TOPMed rs1450470785
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.46
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.23
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available