S2A (p.Ser2Ala) variant of HMBS (Porphobilinogen deaminase)
S2A (p.Ser2Ala) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
S2A (p.Ser2Ala) variant details
- p.Ser2Ala
- gnomAD 11-119085037-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Literature evidence available