L36V (p.Leu36Val) variant of FANCC (Fanconi anemia group C protein)
L36V (p.Leu36Val) in FANCC (Fanconi anemia group C protein) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
L36V (p.Leu36Val) variant details
- p.Leu36Val
- 1000Genomes rs544496341
- ExAC rs544496341
- gnomAD rs544496341
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.12
- CADD 15.70
- PolyPhen-2 0.02
- SIFT 0.12
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- UniProt: Likely benign
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available