S2P (p.Ser2Pro) variant of HMBS (Porphobilinogen deaminase)
S2P (p.Ser2Pro) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
S2P (p.Ser2Pro) variant details
- p.Ser2Pro
- rs1361338844
- ClinGen CA382985689
- ClinVar RCV002599395
- gnomAD rs1361338844
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.57
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 24.00
- PolyPhen-2 0.13
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available