P21S (p.Pro21Ser) variant of JMJD4 (Q9H9V9)
P21S (p.Pro21Ser) 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 0.13 / 1. The record also includes population frequency data and structural context.
P21S (p.Pro21Ser) variant details
- p.Pro21Ser
- cosmic curated COSV10460
- TOPMed rs1198421326
- gnomAD rs1198421326
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.02
- MetaSVM -0.99
- CADD 4.47
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available