L57Q (p.Leu57Gln) variant of FANCA (Fanconi anemia group A protein)
L57Q (p.Leu57Gln) in FANCA (Fanconi anemia group A protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L57Q (p.Leu57Gln) variant details
- p.Leu57Gln
- gnomAD rs1351638021
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.19
- CADD 23.90
- PolyPhen-2 0.82
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available