L124P (p.Leu124Pro) variant of ADH1B (P00325)
L124P (p.Leu124Pro) in ADH1B (P00325) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
L124P (p.Leu124Pro) variant details
- p.Leu124Pro
- cosmic curated COSV59298
- gnomAD rs1232213777
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.19
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available