P21L (p.Pro21Leu) variant of ADH1B (P00325)
P21L (p.Pro21Leu) 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 0.51 / 1. The record also includes population frequency data and structural context.
P21L (p.Pro21Leu) variant details
- p.Pro21Leu
- cosmic curated COSV10461
- ExAC rs761102982
- gnomAD rs761102982
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.41
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.5e-05)
- Structural context available