L83V (p.Leu83Val) variant of STAT5B (P51692)
L83V (p.Leu83Val) in STAT5B (P51692) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
L83V (p.Leu83Val) variant details
- p.Leu83Val
- 1000Genomes rs146176992
- ESP rs146176992
- ExAC rs146176992
- TOPMed rs146176992
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.19
- CADD 21.70
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available