P1164S (p.Pro1164Ser) variant of FANCA (Fanconi anemia group A protein)
P1164S (p.Pro1164Ser) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Fanconi anemia; Fanconi anemia complementation group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P1164S (p.Pro1164Ser) variant details
- p.Pro1164Ser
- rs545772434
- ClinGen CA397485861
- ClinVar RCV001256293
- ClinVar RCV001879789
- Pathogenic/Likely pathogenic
- Fanconi anemia; Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.93
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Fanconi anemia; Fanconi anemia complementation group A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)