S75F (p.Ser75Phe) variant of TULP1 (Tubby-related protein 1)
S75F (p.Ser75Phe) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S75F (p.Ser75Phe) variant details
- p.Ser75Phe
- rs1244588827
- ClinGen CA363784685
- ClinVar RCV001153770
- ClinVar RCV001153771
- Uncertain significance
- Retinitis pigmentosa; Leber congenital amaurosis 15
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.17
- ESM-1b 0.39
- AlphaMissense 0.11
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Retinitis pigmentosa; Leber congenital amaurosis 15)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)
- 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)