V20I (p.Val20Ile) variant of PLAT (P00750)
V20I (p.Val20Ile) in PLAT (P00750) 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 0.19 / 1. The record also includes population frequency data and structural context.
V20I (p.Val20Ile) variant details
- p.Val20Ile
- rs753589968
- NCI-TCGA Cosmic COSV5427
- cosmic curated COSV54279
- ExAC rs753589968
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.29
- CADD 0.28
- PolyPhen-2 0.00
- SIFT 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available