S20T (p.Ser20Thr) variant of FANCC (Fanconi anemia group C protein)
S20T (p.Ser20Thr) in FANCC (Fanconi anemia group C protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S20T (p.Ser20Thr) variant details
- p.Ser20Thr
- ExAC rs775755472
- gnomAD rs775755472
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.24
- CADD 22.30
- PolyPhen-2 0.72
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available