V389L (p.Val389Leu) variant of FANCA (Fanconi anemia group A protein)
V389L (p.Val389Leu) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Fanconi anemia complementation group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
V389L (p.Val389Leu) variant details
- p.Val389Leu
- rs1402841866
- ClinGen CA397466165
- ClinVar RCV002285083
- gnomAD rs1402841866
- Likely pathogenic
- Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.22
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Fanconi anemia complementation group A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)