V1112G (p.Val1112Gly) variant of FANCA (Fanconi anemia group A protein)
V1112G (p.Val1112Gly) 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 0.76 / 1. The record also includes published literature and structural context.
V1112G (p.Val1112Gly) variant details
- p.Val1112Gly
- rs2038474528
- ClinGen CA397486206
- ClinVar RCV001256614
- ClinVar RCV004587093
- Likely pathogenic
- Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- AlphaMissense 0.54
- MetaLR 0.77
- MetaSVM 0.53
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Likely pathogenic (Fanconi anemia)
- EBI: Likely pathogenic
- UniProt: Likely 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)