C24C (p.Cys24Cys) variant of NCSTN (Nicastrin)
C24C (p.Cys24Cys) in NCSTN (Nicastrin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
C24C (p.Cys24Cys) variant details
- p.Cys24Cys
- gnomAD 1-160343468-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.608
- CADD 16.70
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Literature evidence available