M38V (p.Met38Val) variant of LEPR (Leptin receptor)
M38V (p.Met38Val) in LEPR (Leptin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
M38V (p.Met38Val) variant details
- p.Met38Val
- gnomAD 1-65570544-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.07
- CADD 10.90
- PolyPhen-2 0.00
- SIFT 0.46
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available