L8F (p.Leu8Phe) variant of JMJD4 (Q9H9V9)
L8F (p.Leu8Phe) in JMJD4 (Q9H9V9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
L8F (p.Leu8Phe) variant details
- p.Leu8Phe
- cosmic curated COSV10513
- ExAC rs772131933
- TOPMed rs772131933
- gnomAD rs772131933
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.01
- MetaSVM -0.96
- CADD 2.32
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available