T67K (p.Thr67Lys) variant of TULP1 (Tubby-related protein 1)
T67K (p.Thr67Lys) in TULP1 (Tubby-related protein 1) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
T67K (p.Thr67Lys) variant details
- p.Thr67Lys
- 1000Genomes rs7764472
- ESP rs7764472
- ExAC rs7764472
- TOPMed rs7764472
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 8.27
- PolyPhen-2 0.00
- SIFT 0.27
- EBI: Benign (in dbSNP:rs7764472)
- UniProt: Benign (in dbSNP:rs7764472)
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available