S45L (p.Ser45Leu) variant of HMBS (Porphobilinogen deaminase)
S45L (p.Ser45Leu) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; Acute intermittent porphyria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S45L (p.Ser45Leu) variant details
- p.Ser45Leu
- rs138776835
- ClinGen CA6313913
- cosmic curated COSV53828
- ClinVar RCV000888463
- Benign/Likely benign
- not provided; Acute intermittent porphyria
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 12.10
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign/Likely benign (not provided; Acute intermittent porphyria)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Acute Intermittent Porphyria. (PMID 20301372)