S108I (p.Ser108Ile) variant of NPC2 (P61916)
S108I (p.Ser108Ile) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S108I (p.Ser108Ile) variant details
- p.Ser108Ile
- TOPMed rs2086687611
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.36
- ESM-1b 0.29
- AlphaMissense 0.23
- CADD 13.70
- PolyPhen-2 0.24
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available