A10A (p.Ala10Ala) variant of NCSTN (Nicastrin)
A10A (p.Ala10Ala) in NCSTN (Nicastrin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A10A (p.Ala10Ala) variant details
- p.Ala10Ala
- rs1388458406
- gnomAD 1-160343426-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.139
- CADD 8.21
- Most common in the 1KG:GIH population (allele frequency 0.02)
- Structural context available
- Literature evidence available