S70I (p.Ser70Ile) variant of NPC2 (P61916)
S70I (p.Ser70Ile) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S70I (p.Ser70Ile) variant details
- p.Ser70Ile
- gnomAD 14-74484569-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.51
- CADD 24.60
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available