S46L (p.Ser46Leu) variant of FANCA (Fanconi anemia group A protein)
S46L (p.Ser46Leu) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S46L (p.Ser46Leu) variant details
- p.Ser46Leu
- rs2041098068
- ClinGen CA397483403
- cosmic curated COSV10469
- ClinVar RCV001068775
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.12
- AlphaMissense 0.20
- MetaLR 0.18
- MetaSVM -0.86
- CADD 23.20
- PolyPhen-2 0.65
- 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)