L118V (p.Leu118Val) variant of IFT172 (Q9UG01)
L118V (p.Leu118Val) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
L118V (p.Leu118Val) variant details
- p.Leu118Val
- gnomAD rs1668565431
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.22
- CADD 20.30
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available