R29W (p.Arg29Trp) variant of TULP1 (Tubby-related protein 1)
R29W (p.Arg29Trp) 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 Retinitis pigmentosa; Leber congenital amaurosis 15. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R29W (p.Arg29Trp) variant details
- p.Arg29Trp
- rs148838796
- ClinGen CA3773035
- NCI-TCGA Cosmic COSV5769
- cosmic curated COSV57692
- Uncertain significance
- Retinitis pigmentosa; Leber congenital amaurosis 15
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.10
- ESM-1b 0.79
- AlphaMissense 0.12
- CADD 20.60
- PolyPhen-2 0.33
- SIFT 0.06
- ClinVar: Uncertain significance (Retinitis pigmentosa; Leber congenital amaurosis 15)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)