A21V (p.Ala21Val) variant of LEPR (Leptin receptor)
A21V (p.Ala21Val) in LEPR (Leptin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- rs779334350
- NCI-TCGA Cosmic COSV6075
- cosmic curated COSV60754
- ExAC rs779334350
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.35
- CADD 22.80
- PolyPhen-2 1.00
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available