P21R (p.Pro21Arg) variant of JMJD4 (Q9H9V9)
P21R (p.Pro21Arg) in JMJD4 (Q9H9V9) is a missense change. Clinical records from ClinVar, EBI, 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 0.19 / 1. The record also includes population frequency data and structural context.
P21R (p.Pro21Arg) variant details
- p.Pro21Arg
- ExAC rs767467840
- TOPMed rs767467840
- gnomAD rs767467840
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.02
- MetaSVM -1.00
- CADD 8.79
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.045)
- Structural context available