T60I (p.Thr60Ile) variant of NPC2 (P61916)
T60I (p.Thr60Ile) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
T60I (p.Thr60Ile) variant details
- p.Thr60Ile
- gnomAD rs1390815745
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.59
- CADD 28.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available