D14G (p.Asp14Gly) variant of FANCA (Fanconi anemia group A protein)
D14G (p.Asp14Gly) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
D14G (p.Asp14Gly) variant details
- p.Asp14Gly
- rs762648754
- ClinGen CA8253266
- ClinVar RCV000233505
- ClinVar RCV000665027
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.09
- CADD 10.90
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00075)
- 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)