V49V (p.Val49Val) variant of SIX1 (Homeobox protein SIX1)
V49V (p.Val49Val) in SIX1 (Homeobox protein SIX1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V49V (p.Val49Val) variant details
- p.Val49Val
- gnomAD 14-60649043-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.239
- CADD 14.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score 0.0393
- Literature evidence available