P38P (p.Pro38Pro) variant of SIX1 (Homeobox protein SIX1)
P38P (p.Pro38Pro) in SIX1 (Homeobox protein SIX1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P38P (p.Pro38Pro) variant details
- p.Pro38Pro
- rs752537825
- gnomAD 14-60649076-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.144
- CADD 8.89
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.865
- Literature evidence available