F13L (p.Phe13Leu) variant of JMJD4 (Q9H9V9)
F13L (p.Phe13Leu) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
F13L (p.Phe13Leu) variant details
- p.Phe13Leu
- cosmic curated COSV59918
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.82
- MetaLR 0.08
- MetaSVM -1.03
- CADD 15.57
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available