P38L (p.Pro38Leu) variant of SIX1 (Homeobox protein SIX1)
P38L (p.Pro38Leu) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P38L (p.Pro38Leu) variant details
- p.Pro38Leu
- gnomAD 14-60649077-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- CADD 30.00
- PolyPhen-2 0.57
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.865
- Literature evidence available