T86K (p.Thr86Lys) variant of TULP1 (Tubby-related protein 1)
T86K (p.Thr86Lys) 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 0.23 / 1. The record also includes population frequency data and structural context.
T86K (p.Thr86Lys) variant details
- p.Thr86Lys
- rs761667984
- ClinGen CA3772977
- ClinVar RCV001966308
- ExAC rs761667984
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 21.60
- PolyPhen-2 0.07
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available