H35R (p.His35Arg) variant of DAP3 (P51398)
H35R (p.His35Arg) in DAP3 (P51398) 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 0.08 / 1. The record also includes population frequency data and structural context.
H35R (p.His35Arg) variant details
- p.His35Arg
- TOPMed rs1418571902
- gnomAD rs1418571902
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0803
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 4.49
- PolyPhen-2 0.02
- SIFT 0.51
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available