L37V (p.Leu37Val) variant of SIX1 (Homeobox protein SIX1)
L37V (p.Leu37Val) in SIX1 (Homeobox protein SIX1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L37V (p.Leu37Val) variant details
- p.Leu37Val
- TOPMed rs1001409064
- gnomAD rs1001409064
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- CADD 24.10
- PolyPhen-2 0.35
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.364