P73L (p.Pro73Leu) variant of GALT (P07902)
P73L (p.Pro73Leu) in GALT (P07902) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
P73L (p.Pro73Leu) variant details
- p.Pro73Leu
- NCI-TCGA Cosmic COSV1011
- cosmic curated COSV10112
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.96
- CADD 25.00
- PolyPhen-2 0.96
- SIFT 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available