A18G (p.Ala18Gly) variant of NPC1 (O15118)
A18G (p.Ala18Gly) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A18G (p.Ala18Gly) variant details
- p.Ala18Gly
- Ensembl rs973277515
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.23
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the Latino/Admixed American population (allele frequency 5.6e-05)
- Structural context available