T10T (p.Thr10Thr) variant of HMBS (Porphobilinogen deaminase)
T10T (p.Thr10Thr) in HMBS (Porphobilinogen deaminase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
T10T (p.Thr10Thr) variant details
- p.Thr10Thr
- rs782243560
- gnomAD 11-119085063-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.133
- CADD 7.42
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Literature evidence available