P32L (p.Pro32Leu) variant of UNC13D (Protein unc-13 homolog D)
P32L (p.Pro32Leu) in UNC13D (Protein unc-13 homolog D) 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 0.24 / 1. The record also includes population frequency data and structural context.
P32L (p.Pro32Leu) variant details
- p.Pro32Leu
- rs766863447
- NCI-TCGA Cosmic COSV5288
- cosmic curated COSV52885
- ExAC rs766863447
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.11
- CADD 19.90
- PolyPhen-2 0.05
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available