P12L (p.Pro12Leu) variant of IFT172 (Q9UG01)
P12L (p.Pro12Leu) in IFT172 (Q9UG01) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- gnomAD rs1669022527
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.19
- CADD 25.30
- PolyPhen-2 0.26
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available