L30Q (p.Leu30Gln) variant of NCSTN (Nicastrin)
L30Q (p.Leu30Gln) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
L30Q (p.Leu30Gln) variant details
- p.Leu30Gln
- gnomAD 1-160343713-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0635
- REVEL 0.05
- CADD 5.12
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available