T126A (p.Thr126Ala) variant of NPC1 (O15118)
T126A (p.Thr126Ala) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
T126A (p.Thr126Ala) variant details
- p.Thr126Ala
- TOPMed rs1599002810
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.37
- CADD 18.80
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available