I65V (p.Ile65Val) variant of NPC2 (P61916)
I65V (p.Ile65Val) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
I65V (p.Ile65Val) variant details
- p.Ile65Val
- gnomAD 14-74484585-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 6.82
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available