L8V (p.Leu8Val) variant of JMJD4 (Q9H9V9)
L8V (p.Leu8Val) in JMJD4 (Q9H9V9) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
L8V (p.Leu8Val) variant details
- p.Leu8Val
- ExAC rs772131933
- TOPMed rs772131933
- gnomAD rs772131933
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.02
- MetaSVM -0.95
- CADD 5.11
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available