Q59P (p.Gln59Pro) variant of NCSTN (Nicastrin)
Q59P (p.Gln59Pro) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
Q59P (p.Gln59Pro) variant details
- p.Gln59Pro
- gnomAD 1-160343767-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.03
- CADD 9.49
- SIFT 0.13
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- Structural context available
- Literature evidence available