T25T (p.Thr25Thr) variant of HMBS (Porphobilinogen deaminase)
T25T (p.Thr25Thr) in HMBS (Porphobilinogen deaminase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
T25T (p.Thr25Thr) variant details
- p.Thr25Thr
- rs1252084629
- gnomAD 11-119088296-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.354
- CADD 14.10
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available
- Literature evidence available