V6I (p.Val6Ile) variant of FANCA (Fanconi anemia group A protein)
V6I (p.Val6Ile) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
V6I (p.Val6Ile) variant details
- p.Val6Ile
- TOPMed rs1348835311
- gnomAD rs1348835311
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.13
- CADD 13.50
- PolyPhen-2 0.01
- SIFT 0.04
- EBI: Likely benign (in dbSNP:rs1800282)
- UniProt: Likely benign (in dbSNP:rs1800282)
- Most common in the Non-Finnish European population (allele frequency 6.5e-06)
- Structural context available