C40Y (p.Cys40Tyr) variant of SIX1 (Homeobox protein SIX1)
C40Y (p.Cys40Tyr) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C40Y (p.Cys40Tyr) variant details
- p.Cys40Tyr
- gnomAD 14-60649071-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- CADD 23.40
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.339
- Literature evidence available