Q39H (p.Gln39His) variant of DAP3 (P51398)
Q39H (p.Gln39His) 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 0.18 / 1. The record also includes population frequency data and structural context.
Q39H (p.Gln39His) variant details
- p.Gln39His
- rs752327968
- NCI-TCGA Cosmic COSV5802
- cosmic curated COSV58022
- ExAC rs752327968
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 22.60
- PolyPhen-2 0.53
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available