L50F (p.Leu50Phe) variant of FANCA (Fanconi anemia group A protein)
L50F (p.Leu50Phe) in FANCA (Fanconi anemia group A protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L50F (p.Leu50Phe) variant details
- p.Leu50Phe
- TOPMed rs2041097480
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.13
- CADD 25.30
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available