T35T (p.Thr35Thr) variant of HMBS (Porphobilinogen deaminase)
T35T (p.Thr35Thr) in HMBS (Porphobilinogen deaminase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
T35T (p.Thr35Thr) variant details
- p.Thr35Thr
- rs370081222
- gnomAD 11-119088652-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.143
- CADD 8.85
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Literature evidence available