P84P (p.Pro84Pro) variant of NPC2 (P61916)
P84P (p.Pro84Pro) in NPC2 (P61916) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P84P (p.Pro84Pro) variant details
- p.Pro84Pro
- gnomAD 14-74484526-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.269
- CADD 10.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available