L53F (p.Leu53Phe) variant of C9ORF72 (Q96LT7)
L53F (p.Leu53Phe) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L53F (p.Leu53Phe) variant details
- p.Leu53Phe
- gnomAD rs1189869941
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.10
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.73
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available