R20C (p.Arg20Cys) variant of DAP3 (P51398)
R20C (p.Arg20Cys) in DAP3 (P51398) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; 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.
R20C (p.Arg20Cys) variant details
- p.Arg20Cys
- rs770793096
- ClinGen CA1149159
- cosmic curated COSV58022
- ClinVar RCV004110137
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.01
- ESM-1b 0.65
- AlphaMissense 0.07
- CADD 9.98
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00033)
- Structural context available