S13S (p.Ser13Ser) variant of ATP7A (Copper-transporting ATPase 1)
S13S (p.Ser13Ser) in ATP7A (Copper-transporting ATPase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S13S (p.Ser13Ser) variant details
- p.Ser13Ser
- rs986987107
- gnomAD X-77971680-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.354
- CADD 11.70
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available