Y17C (p.Tyr17Cys) variant of LEPR (Leptin receptor)
Y17C (p.Tyr17Cys) in LEPR (Leptin receptor) 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, published literature, and structural context.
Y17C (p.Tyr17Cys) variant details
- p.Tyr17Cys
- gnomAD 1-65570482-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.13
- CADD 10.40
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available