T124K (p.Thr124Lys) variant of NPC1 (O15118)
T124K (p.Thr124Lys) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
T124K (p.Thr124Lys) variant details
- p.Thr124Lys
- Ensembl rs867274673
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.65
- CADD 22.90
- PolyPhen-2 0.07
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available