M79L (p.Met79Leu) variant of NPC2 (P61916)
M79L (p.Met79Leu) 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.
M79L (p.Met79Leu) variant details
- p.Met79Leu
- gnomAD 14-74484543-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.79
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available