V94A (p.Val94Ala) variant of LEP (Leptin)
V94A (p.Val94Ala) in LEP (Leptin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
V94A (p.Val94Ala) variant details
- p.Val94Ala
- gnomAD 7-128254540-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.13
- CADD 14.80
- PolyPhen-2 0.32
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available