P95S (p.Pro95Ser) variant of TULP1 (Tubby-related protein 1)
P95S (p.Pro95Ser) 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 Leber congenital amaurosis 15. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
P95S (p.Pro95Ser) variant details
- p.Pro95Ser
- rs924446814
- ClinGen CA137292689
- ClinVar RCV003989344
- TOPMed rs924446814
- Uncertain significance
- Leber congenital amaurosis 15
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- ESM-1b 0.00
- AlphaMissense 0.27
- MetaLR 0.43
- MetaSVM -0.38
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Leber congenital amaurosis 15)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)