L71M (p.Leu71Met) variant of FANCC (Fanconi anemia group C protein)
L71M (p.Leu71Met) in FANCC (Fanconi anemia group C protein) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
L71M (p.Leu71Met) variant details
- p.Leu71Met
- gnomAD rs1159035875
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.43
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available