S2F (p.Ser2Phe) variant of HMBS (Porphobilinogen deaminase)
S2F (p.Ser2Phe) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S2F (p.Ser2Phe) variant details
- p.Ser2Phe
- gnomAD 11-119085038-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.53
- ESM-1b 0.71
- AlphaMissense 0.16
- CADD 25.20
- PolyPhen-2 0.33
- SIFT 0.00
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Literature evidence available