S2S (p.Ser2Ser) variant of HMBS (Porphobilinogen deaminase)
S2S (p.Ser2Ser) in HMBS (Porphobilinogen deaminase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
S2S (p.Ser2Ser) variant details
- p.Ser2Ser
- gnomAD 11-119085039-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.181
- CADD 14.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available