I65T (p.Ile65Thr) variant of NPC2 (P61916)
I65T (p.Ile65Thr) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
I65T (p.Ile65Thr) variant details
- p.Ile65Thr
- ExAC rs755819257
- TOPMed rs755819257
- gnomAD rs755819257
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 1.09
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available