P37L (p.Pro37Leu) variant of TULP1 (Tubby-related protein 1)
P37L (p.Pro37Leu) in TULP1 (Tubby-related protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
P37L (p.Pro37Leu) variant details
- p.Pro37Leu
- rs1761225244
- ClinGen CA363785134
- cosmic curated COSV57692
- ClinVar RCV001938963
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 6.45
- PolyPhen-2 0.01
- SIFT 0.31
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6e-06)
- Structural context available