I18S (p.Ile18Ser) variant of CDC73 (Parafibromin)
I18S (p.Ile18Ser) in CDC73 (Parafibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
I18S (p.Ile18Ser) variant details
- p.Ile18Ser
- gnomAD 1-193122253-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.76
- MetaLR 0.63
- MetaSVM 0.26
- CADD 28.00
- PolyPhen-2 0.46
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available