K17T (p.Lys17Thr) variant of HMBS (Porphobilinogen deaminase)
K17T (p.Lys17Thr) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
K17T (p.Lys17Thr) variant details
- p.Lys17Thr
- gnomAD 11-119088271-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 20.00
- PolyPhen-2 0.01
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available