E117K (p.Glu117Lys) variant of TULP1 (Tubby-related protein 1)
E117K (p.Glu117Lys) in TULP1 (Tubby-related protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Retinitis pigmentosa 14; Leber congenital amaurosis 15; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E117K (p.Glu117Lys) variant details
- p.Glu117Lys
- rs527236117
- ClinGen CA270083
- ClinVar RCV000132650
- ClinVar RCV001376329
- Conflicting interpretations
- Retinitis pigmentosa 14; Leber congenital amaurosis 15; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.17
- ESM-1b 1.00
- AlphaMissense 0.07
- CADD 32.00
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Conflicting classifications of pathogenicity (Retinitis pigmentosa 14; Leber congenital amaurosis 15; not prov)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00021)
- 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)