A45G (p.Ala45Gly) variant of FLCN (Folliculin)
A45G (p.Ala45Gly) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Birt-Hogg-Dube syndrome; Carcinoma of colon; Nonpapillary renal cell carcinoma. 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.
A45G (p.Ala45Gly) variant details
- p.Ala45Gly
- rs556510460
- ClinGen CA159761
- ClinVar RCV000121099
- ClinVar RCV000163762
- Conflicting interpretations
- Birt-Hogg-Dube syndrome; Carcinoma of colon; Nonpapillary renal cell carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.26
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.35
- ClinVar: Conflicting classifications of pathogenicity (Birt-Hogg-Dube syndrome; Carcinoma of colon; Nonpapillary renal)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- Structural context available
- Cited in: Potocki-Lupski Syndrome. (PMID 28837307)
- Cited in: Birt-Hogg-Dubé Syndrome. (PMID 20301695)