R20H (p.Arg20His) variant of DAP3 (P51398)
R20H (p.Arg20His) in DAP3 (P51398) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R20H (p.Arg20His) variant details
- p.Arg20His
- rs1274099843
- NCI-TCGA Cosmic COSV5802
- cosmic curated COSV58020
- TOPMed rs1274099843
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.01
- ESM-1b 0.38
- AlphaMissense 0.07
- CADD 4.25
- PolyPhen-2 0.01
- SIFT 0.53
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available