T106S (p.Thr106Ser) variant of NPC2 (P61916)
T106S (p.Thr106Ser) in NPC2 (P61916) 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.
T106S (p.Thr106Ser) variant details
- p.Thr106Ser
- TOPMed rs1221662658
- gnomAD rs1221662658
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available