R50H (p.Arg50His) variant of DAP3 (P51398)
R50H (p.Arg50His) 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 0.28 / 1. The record also includes population frequency data and structural context.
R50H (p.Arg50His) variant details
- p.Arg50His
- rs149919712
- cosmic curated COSV58023
- ESP rs149919712
- ExAC rs149919712
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 22.50
- PolyPhen-2 0.04
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available