V12V (p.Val12Val) variant of HBB (Hemoglobin subunit beta)
V12V (p.Val12Val) in HBB (Hemoglobin subunit beta) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
V12V (p.Val12Val) variant details
- p.Val12Val
- gnomAD 11-5226986-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.183
- CADD 1.07
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available
- Literature evidence available