P1164L (p.Pro1164Leu) variant of FANCA (Fanconi anemia group A protein)
P1164L (p.Pro1164Leu) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
P1164L (p.Pro1164Leu) variant details
- p.Pro1164Leu
- rs2038399117
- ClinGen CA397485858
- ClinVar RCV001256294
- ClinVar RCV002570433
- Likely pathogenic
- Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.90
- AlphaMissense 0.64
- MetaLR 0.92
- MetaSVM 1.06
- CADD 25.70
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Fanconi anemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)