T62A (p.Thr62Ala) variant of NPC2 (P61916)
T62A (p.Thr62Ala) in NPC2 (P61916) 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.
T62A (p.Thr62Ala) variant details
- p.Thr62Ala
- ExAC rs748877887
- gnomAD rs748877887
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.20
- ESM-1b 1.00
- AlphaMissense 0.14
- CADD 19.90
- PolyPhen-2 0.02
- SIFT 0.14
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available