V20A (p.Val20Ala) variant of SIX1 (Homeobox protein SIX1)
V20A (p.Val20Ala) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V20A (p.Val20Ala) variant details
- p.Val20Ala
- gnomAD rs1233578721
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- CADD 22.70
- PolyPhen-2 0.07
- SIFT 0.07
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.821