L18V (p.Leu18Val) variant of NCSTN (Nicastrin)
L18V (p.Leu18Val) in NCSTN (Nicastrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L18V (p.Leu18Val) variant details
- p.Leu18Val
- rs376983649
- ClinGen CA343274442
- ClinVar RCV003734945
- ESP rs376983649
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 23.10
- PolyPhen-2 0.28
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available