T2A (p.Thr2Ala) variant of NPC1 (O15118)
T2A (p.Thr2Ala) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
T2A (p.Thr2Ala) variant details
- p.Thr2Ala
- rs771501685
- gnomAD 18-23529695-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.14
- CADD 23.00
- PolyPhen-2 0.08
- SIFT 0.14
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available