R9Q (p.Arg9Gln) variant of TULP1 (Tubby-related protein 1)
R9Q (p.Arg9Gln) 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; 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.
R9Q (p.Arg9Gln) variant details
- p.Arg9Gln
- rs886061338
- ClinGen CA10623722
- cosmic curated COSV57693
- ClinVar RCV000277173
- Uncertain significance
- not provided; Retinitis pigmentosa; Leber congenital amaurosis 15
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Retinitis pigmentosa; Leber congenital amaurosis 1)
- 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)