D7G (p.Asp7Gly) variant of FLT3 (P36888)
D7G (p.Asp7Gly) in FLT3 (P36888) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
D7G (p.Asp7Gly) variant details
- p.Asp7Gly
- rs12872889
- ClinGen CA6929070
- ClinVar RCV001657534
- UniProt VAR 034677
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.15
- MetaLR 0.00
- MetaSVM -0.94
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.80
- ClinVar: Benign (not provided)
- EBI: Benign (in dbSNP:rs12872889)
- UniProt: Benign (in dbSNP:rs12872889)
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available