P84A (p.Pro84Ala) variant of NPC2 (P61916)
P84A (p.Pro84Ala) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
P84A (p.Pro84Ala) variant details
- p.Pro84Ala
- gnomAD 14-74484528-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.62
- ESM-1b 1.00
- AlphaMissense 0.24
- CADD 19.30
- PolyPhen-2 0.09
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available