V30F (p.Val30Phe) variant of FANCA (Fanconi anemia group A protein)
V30F (p.Val30Phe) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V30F (p.Val30Phe) variant details
- p.Val30Phe
- rs1160471115
- ClinGen CA397483774
- ClinVar RCV001037405
- ClinVar RCV005338507
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.25
- CADD 21.20
- PolyPhen-2 0.80
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- 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)