I77M (p.Ile77Met) variant of NPC2 (P61916)
I77M (p.Ile77Met) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
I77M (p.Ile77Met) variant details
- p.Ile77Met
- gnomAD 14-74484547-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.39
- ESM-1b 1.00
- AlphaMissense 0.23
- CADD 21.20
- PolyPhen-2 0.91
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available