I50L (p.Ile50Leu) variant of FTO (Q9C0B1)
I50L (p.Ile50Leu) in FTO (Q9C0B1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
I50L (p.Ile50Leu) variant details
- p.Ile50Leu
- cosmic curated COSV67112
- ESP rs148579300
- TOPMed rs148579300
- gnomAD rs148579300
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.17
- CADD 3.43
- PolyPhen-2 0.02
- SIFT 0.20
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available