V6A (p.Val6Ala) variant of FANCA (Fanconi anemia group A protein)
V6A (p.Val6Ala) in FANCA (Fanconi anemia group A protein) 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 0.11 / 1. The record also includes population frequency data and structural context.
V6A (p.Val6Ala) variant details
- p.Val6Ala
- 1000Genomes rs1800282
- ESP rs1800282
- ExAC rs1800282
- TOPMed rs1800282
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.10
- CADD 1.59
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Benign (in dbSNP:rs1800282)
- UniProt: Benign (in dbSNP:rs1800282)
- Population evidence available
- Structural context available