V99F (p.Val99Phe) variant of JMJD4 (Q9H9V9)
V99F (p.Val99Phe) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
V99F (p.Val99Phe) variant details
- p.Val99Phe
- cosmic curated COSV10024
- ESP rs200460718
- ExAC rs200460718
- TOPMed rs200460718
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.13
- ESM-1b 1.00
- AlphaMissense 0.13
- MetaLR 0.10
- MetaSVM -1.04
- CADD 21.30
- Most common in the Non-Finnish European population (allele frequency 0.0005)
- Structural context available