S69S (p.Ser69Ser) variant of NPC2 (P61916)
S69S (p.Ser69Ser) 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.
S69S (p.Ser69Ser) variant details
- p.Ser69Ser
- rs970173671
- gnomAD 14-74484571-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.099
- CADD 2.59
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available