P37L (p.Pro37Leu) variant of TNXB (Tenascin-X)
P37L (p.Pro37Leu) in TNXB (Tenascin-X) 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 0.37 / 1. The record also includes population frequency data and structural context.
P37L (p.Pro37Leu) variant details
- p.Pro37Leu
- NCI-TCGA Cosmic COSV6448
- cosmic curated COSV64488
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 24.10
- PolyPhen-2 0.76
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available