P5A (p.Pro5Ala) variant of SIX1 (Homeobox protein SIX1)
P5A (p.Pro5Ala) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P5A (p.Pro5Ala) variant details
- p.Pro5Ala
- ExAC rs759906473
- gnomAD rs759906473
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- CADD 24.40
- PolyPhen-2 0.17
- SIFT 0.03
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.28