H14R (p.His14Arg) variant of DAP3 (P51398)
H14R (p.His14Arg) in DAP3 (P51398) 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 0.09 / 1. The record also includes population frequency data and structural context.
H14R (p.His14Arg) variant details
- p.His14Arg
- rs764152940
- ClinGen CA1149142
- ClinVar RCV004370897
- ExAC rs764152940
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0877
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 8.16
- PolyPhen-2 0.00
- SIFT 0.56
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available