A9V (p.Ala9Val) variant of JMJD4 (Q9H9V9)
A9V (p.Ala9Val) in JMJD4 (Q9H9V9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes published literature and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- rs7419238
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- MetaLR 0.00
- MetaSVM -1.01
- CADD 6.30
- PolyPhen-2 0.00
- SIFT 1.00
- Structural context available
- Cited in: Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID 14702039)