D7V (p.Asp7Val) variant of FLT3 (P36888)
D7V (p.Asp7Val) in FLT3 (P36888) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
D7V (p.Asp7Val) variant details
- p.Asp7Val
- 1000Genomes rs12872889
- ExAC rs12872889
- TOPMed rs12872889
- gnomAD rs12872889
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.15
- MetaLR 0.20
- MetaSVM -0.93
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.30
- EBI: Benign (in dbSNP:rs12872889)
- UniProt: Benign (in dbSNP:rs12872889)
- Population evidence available
- Structural context available