A16S (p.Ala16Ser) variant of NPC2 (P61916)
A16S (p.Ala16Ser) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A16S (p.Ala16Ser) variant details
- p.Ala16Ser
- gnomAD rs1210749225
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 15.10
- PolyPhen-2 0.01
- SIFT 0.49
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available