V20V (p.Val20Val) variant of HMBS (Porphobilinogen deaminase)
V20V (p.Val20Val) in HMBS (Porphobilinogen deaminase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
V20V (p.Val20Val) variant details
- p.Val20Val
- rs1278601312
- gnomAD 11-119088281-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.315
- CADD 13.80
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Literature evidence available