H44P (p.His44Pro) variant of SIX1 (Homeobox protein SIX1)
H44P (p.His44Pro) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
H44P (p.His44Pro) variant details
- p.His44Pro
- gnomAD 14-60649059-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- CADD 24.60
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.666
- Literature evidence available