R29H (p.Arg29His) variant of SIX1 (Homeobox protein SIX1)
R29H (p.Arg29His) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R29H (p.Arg29His) variant details
- p.Arg29His
- cosmic curated COSV55959
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- CADD 26.00
- PolyPhen-2 0.42
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.727