N12S (p.Asn12Ser) variant of CDC73 (Parafibromin)
N12S (p.Asn12Ser) in CDC73 (Parafibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
N12S (p.Asn12Ser) variant details
- p.Asn12Ser
- gnomAD 1-193122235-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.43
- MetaLR 0.48
- MetaSVM -0.34
- CADD 23.00
- PolyPhen-2 0.11
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available