A31V (p.Ala31Val) variant of JMJD4 (Q9H9V9)
A31V (p.Ala31Val) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A31V (p.Ala31Val) variant details
- p.Ala31Val
- ExAC rs755818958
- gnomAD rs755818958
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.05
- MetaSVM -1.01
- CADD 16.58
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available