T1131N (p.Thr1131Asn) variant of FANCA (Fanconi anemia group A protein)
T1131N (p.Thr1131Asn) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
T1131N (p.Thr1131Asn) variant details
- p.Thr1131Asn
- rs2143109078
- ClinGen CA397486076
- ClinVar RCV002886037
- Likely pathogenic
- Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.68
- CADD 24.90
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (Fanconi anemia)
- EBI: Likely pathogenic (in FANCA)
- UniProt: Likely pathogenic (in FANCA)
- Population evidence available
- 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)