P25L (p.Pro25Leu) variant of TULP1 (Tubby-related protein 1)
P25L (p.Pro25Leu) 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 TULP1-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P25L (p.Pro25Leu) variant details
- p.Pro25Leu
- rs761981623
- ClinGen CA3773038
- ClinVar RCV001337253
- ExAC rs761981623
- Uncertain significance
- TULP1-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (TULP1-related disorder; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00027)
- Structural context available