P49Q (p.Pro49Gln) variant of NCSTN (Nicastrin)
P49Q (p.Pro49Gln) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P49Q (p.Pro49Gln) variant details
- p.Pro49Gln
- gnomAD 1-160343764-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.02
- ESM-1b 1.00
- AlphaMissense 0.83
- CADD 7.12
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available