Q41P (p.Gln41Pro) variant of FANCA (Fanconi anemia group A protein)
Q41P (p.Gln41Pro) in FANCA (Fanconi anemia group A protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
Q41P (p.Gln41Pro) variant details
- p.Gln41Pro
- TOPMed rs1305209243
- gnomAD rs1305209243
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.17
- CADD 13.60
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available