T82I (p.Thr82Ile) variant of NPC1 (O15118)
T82I (p.Thr82Ile) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
T82I (p.Thr82Ile) variant details
- p.Thr82Ile
- gnomAD rs1248676783
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.49
- CADD 22.60
- PolyPhen-2 0.06
- SIFT 0.09
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available