S108G (p.Ser108Gly) variant of NPC2 (P61916)
S108G (p.Ser108Gly) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S108G (p.Ser108Gly) variant details
- p.Ser108Gly
- gnomAD 14-74484456-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.25
- ESM-1b 0.52
- AlphaMissense 0.18
- CADD 19.90
- PolyPhen-2 0.17
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Literature evidence available