I65S (p.Ile65Ser) variant of NPC2 (P61916)
I65S (p.Ile65Ser) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
I65S (p.Ile65Ser) variant details
- p.Ile65Ser
- ExAC rs755819257
- TOPMed rs755819257
- gnomAD rs755819257
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.22
- ESM-1b 0.31
- AlphaMissense 0.16
- CADD 12.60
- PolyPhen-2 0.12
- SIFT 0.57
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available