A60V (p.Ala60Val) variant of JMJD4 (Q9H9V9)
A60V (p.Ala60Val) 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.
A60V (p.Ala60Val) variant details
- p.Ala60Val
- cosmic curated COSV59916
- TOPMed rs926889471
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.04
- ESM-1b 0.31
- AlphaMissense 0.12
- MetaLR 0.10
- MetaSVM -1.01
- CADD 23.70
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available