P49A (p.Pro49Ala) variant of NCSTN (Nicastrin)
P49A (p.Pro49Ala) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
P49A (p.Pro49Ala) variant details
- p.Pro49Ala
- rs1188177088
- gnomAD 1-160343763-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 5.78
- SIFT 0.79
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available