M55I (p.Met55Ile) variant of FANCC (Fanconi anemia group C protein)
M55I (p.Met55Ile) in FANCC (Fanconi anemia group C protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Fanconi anemia complementation group C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
M55I (p.Met55Ile) variant details
- p.Met55Ile
- gnomAD rs1376922387
- Uncertain significance
- Fanconi anemia complementation group C
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.19
- CADD 28.40
- PolyPhen-2 0.35
- SIFT 0.01
- ClinVar: Uncertain significance (Fanconi anemia complementation group C)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available