S37S (p.Ser37Ser) variant of HMBS (Porphobilinogen deaminase)
S37S (p.Ser37Ser) in HMBS (Porphobilinogen deaminase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
S37S (p.Ser37Ser) variant details
- p.Ser37Ser
- rs1946151237
- gnomAD 11-119088658-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.168
- CADD 12.30
- Most common in the HGDP:TU population (allele frequency 0.1)
- Structural context available
- Literature evidence available