T67R (p.Thr67Arg) variant of TULP1 (Tubby-related protein 1)
T67R (p.Thr67Arg) in TULP1 (Tubby-related protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Retinal dystrophy; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
T67R (p.Thr67Arg) variant details
- p.Thr67Arg
- rs2533809491
- ClinGen CA2739272959
- ClinVar RCV003663638
- Likely benign
- Retinal dystrophy; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.04
- CADD 5.37
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (not provided)
- EBI: Likely benign (in dbSNP:rs7764472)
- UniProt: Likely benign (in dbSNP:rs7764472)
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 1)
- Structural context available
- Cited in: Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation… (PMID 9096357)
- Cited in: TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa. (PMID 9462751)