S7S (p.Ser7Ser) variant of SMPD1 (Sphingomyelin phosphodiesterase)
S7S (p.Ser7Ser) in SMPD1 (Sphingomyelin phosphodiesterase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S7S (p.Ser7Ser) variant details
- p.Ser7Ser
- rs774163288
- gnomAD 11-6390619-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.206
- CADD 7.71
- Population evidence available
- Structural context available
- Literature evidence available