A42V (p.Ala42Val) variant of JMJD4 (Q9H9V9)
A42V (p.Ala42Val) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A42V (p.Ala42Val) variant details
- p.Ala42Val
- ExAC rs771467082
- gnomAD rs771467082
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.09
- ESM-1b 0.36
- AlphaMissense 0.16
- MetaLR 0.11
- MetaSVM -0.97
- CADD 21.50
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available