S6S (p.Ser6Ser) variant of ASS1 (Argininosuccinate synthase)
S6S (p.Ser6Ser) in ASS1 (Argininosuccinate synthase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S6S (p.Ser6Ser) variant details
- p.Ser6Ser
- rs555717331
- gnomAD 9-130452246-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.139
- CADD 8.22
- Most common in the HGDP:SAN population (allele frequency 0.083)
- Structural context available
- Literature evidence available