L34P (p.Leu34Pro) variant of SIX1 (Homeobox protein SIX1)
L34P (p.Leu34Pro) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L34P (p.Leu34Pro) variant details
- p.Leu34Pro
- gnomAD 14-60649089-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.641
- Literature evidence available