N111T (p.Asn111Thr) variant of NPC2 (P61916)
N111T (p.Asn111Thr) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
N111T (p.Asn111Thr) variant details
- p.Asn111Thr
- gnomAD 14-74484446-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.18
- ESM-1b 1.00
- AlphaMissense 0.23
- CADD 22.00
- PolyPhen-2 0.17
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available