V6D (p.Val6Asp) variant of FANCA (Fanconi anemia group A protein)
V6D (p.Val6Asp) 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
V6D (p.Val6Asp) variant details
- p.Val6Asp
- rs1800282
- ClinGen CA159226
- cosmic curated COSV66881
- ClinVar RCV000120910
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.16
- CADD 14.30
- PolyPhen-2 0.02
- SIFT 0.02
- EBI: Benign (in dbSNP:rs1800282)
- UniProt: Benign (in dbSNP:rs1800282)
- Most common in the HGDP:SURUI population (allele frequency 0.36)
- 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)