T106T (p.Thr106Thr) variant of NPC2 (P61916)
T106T (p.Thr106Thr) in NPC2 (P61916) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
T106T (p.Thr106Thr) variant details
- p.Thr106Thr
- rs763613633
- gnomAD 14-74484460-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.428
- CADD 10.90
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available