S49C (p.Ser49Cys) variant of XPC (Q01831)
S49C (p.Ser49Cys) in XPC (Q01831) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S49C (p.Ser49Cys) variant details
- p.Ser49Cys
- ExAC rs761266459
- gnomAD rs761266459
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.12
- CADD 22.70
- PolyPhen-2 0.62
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available