V23V (p.Val23Val) variant of HMBS (Porphobilinogen deaminase)
V23V (p.Val23Val) in HMBS (Porphobilinogen deaminase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
V23V (p.Val23Val) variant details
- p.Val23Val
- rs1240518079
- gnomAD 11-119088290-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.433
- CADD 10.80
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- Structural context available
- Literature evidence available