V94M (p.Val94Met) variant of LEP (Leptin)
V94M (p.Val94Met) in LEP (Leptin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Monogenic diabetes; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
V94M (p.Val94Met) variant details
- p.Val94Met
- rs17151919
- ClinGen CA4469685
- ClinVar RCV000445399
- ClinVar RCV000947067
- Benign/Likely benign
- Monogenic diabetes; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.17
- CADD 0.89
- PolyPhen-2 0.29
- SIFT 0.25
- ClinVar: Benign/Likely benign (Monogenic diabetes; not provided)
- EBI: Benign (in dbSNP:rs17151919)
- UniProt: Benign (in dbSNP:rs17151919)
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- Cited in: Crystal structure of the obese protein leptin-E100. (PMID 9144295)