R64S (p.Arg64Ser) variant of SIX1 (Homeobox protein SIX1)
R64S (p.Arg64Ser) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R64S (p.Arg64Ser) variant details
- p.Arg64Ser
- gnomAD 14-60649000-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- CADD 23.20
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available