S48S (p.Ser48Ser) variant of ATP6V1A (P38606)
S48S (p.Ser48Ser) in ATP6V1A (P38606) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
S48S (p.Ser48Ser) variant details
- p.Ser48Ser
- rs755432094
- gnomAD 3-113781111-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.11
- CADD 4.11
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available