P15S (p.Pro15Ser) variant of FANCA (Fanconi anemia group A protein)
P15S (p.Pro15Ser) in FANCA (Fanconi anemia group A protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
P15S (p.Pro15Ser) variant details
- p.Pro15Ser
- TOPMed rs1567660116
- Missense
- Variant Prioritization Score for Impact Estimate 0.0499
- REVEL 0.05
- CADD 0.15
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available