P45L (p.Pro45Leu) variant of DAP3 (P51398)
P45L (p.Pro45Leu) 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 0.13 / 1. The record also includes population frequency data and structural context.
P45L (p.Pro45Leu) variant details
- p.Pro45Leu
- cosmic curated COSV58019
- ESP rs373966776
- ExAC rs373966776
- TOPMed rs373966776
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available