A72A (p.Ala72Ala) variant of NPC2 (P61916)
A72A (p.Ala72Ala) in NPC2 (P61916) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A72A (p.Ala72Ala) variant details
- p.Ala72Ala
- rs773861377
- gnomAD 14-74484562-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0999
- CADD 2.72
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Literature evidence available