P61L (p.Pro61Leu) variant of ADH1B (P00325)
P61L (p.Pro61Leu) in ADH1B (P00325) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
P61L (p.Pro61Leu) variant details
- p.Pro61Leu
- cosmic curated COSV10736
- ESP rs373714087
- ExAC rs373714087
- TOPMed rs373714087
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.02
- CADD 13.10
- PolyPhen-2 0.55
- SIFT 0.19
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available