A45V (p.Ala45Val) variant of FLCN (Folliculin)
A45V (p.Ala45Val) 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; 17p11.2 microduplication syndrome; Colorectal cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A45V (p.Ala45Val) variant details
- p.Ala45Val
- rs556510460
- ClinGen CA8416512
- NCI-TCGA Cosmic COSV5325
- cosmic curated COSV53257
- Conflicting interpretations
- Birt-Hogg-Dube syndrome; 17p11.2 microduplication syndrome; Colorectal cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.37
- CADD 14.90
- PolyPhen-2 0.31
- SIFT 0.28
- ClinVar: Conflicting classifications of pathogenicity (Birt-Hogg-Dube syndrome; 17p11.2 microduplication syndrome; Colo)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available
- Cited in: Potocki-Lupski Syndrome. (PMID 28837307)
- Cited in: Birt-Hogg-Dubé Syndrome. (PMID 20301695)