P2H (p.Pro2His) variant of TULP1 (Tubby-related protein 1)
P2H (p.Pro2His) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
P2H (p.Pro2His) variant details
- p.Pro2His
- rs1174952138
- ClinGen CA363785516
- cosmic curated COSV10000
- ClinVar RCV001724829
- Uncertain significance
- not provided; Retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.59
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Retinitis pigmentosa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)