K31* (p.Lys31Ter) variant of FANCA (Fanconi anemia group A protein)
K31* (p.Lys31Ter) in FANCA (Fanconi anemia group A protein) is a protein-truncating 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 published literature and structural context.
K31* (p.Lys31Ter) variant details
- p.Lys31Ter
- rs2041101553
- ClinGen CA397483745
- ClinVar RCV001052431
- Ensembl rs2041101553
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.382
- AlphaMissense 0.15
- MetaLR 0.27
- MetaSVM -0.88
- PolyPhen-2 0.00
- SIFT 0.34
- EVE 0.26
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)