V73V (p.Val73Val) variant of NPC2 (P61916)
V73V (p.Val73Val) in NPC2 (P61916) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
V73V (p.Val73Val) variant details
- p.Val73Val
- rs1281836334
- gnomAD 14-74484559-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0894
- CADD 1.23
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available