D41V (p.Asp41Val) variant of PAX6 (Paired box protein Pax-6)
D41V (p.Asp41Val) in PAX6 (Paired box protein Pax-6) 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 0.64 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D41V (p.Asp41Val) variant details
- p.Asp41Val
- NCI-TCGA Cosmic COSV5379
- cosmic curated COSV53793
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.09
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.179