A21P (p.Ala21Pro) variant of FANCA (Fanconi anemia group A protein)
A21P (p.Ala21Pro) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
A21P (p.Ala21Pro) variant details
- p.Ala21Pro
- gnomAD rs1459330448
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.15
- CADD 0.75
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available