V99A (p.Val99Ala) variant of JMJD4 (Q9H9V9)
V99A (p.Val99Ala) in JMJD4 (Q9H9V9) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
V99A (p.Val99Ala) variant details
- p.Val99Ala
- TOPMed rs977414047
- gnomAD rs977414047
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.04
- MetaSVM -1.06
- CADD 15.52
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available