K98R (p.Lys98Arg) variant of TULP1 (Tubby-related protein 1)
K98R (p.Lys98Arg) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
K98R (p.Lys98Arg) variant details
- p.Lys98Arg
- TOPMed rs1761206862
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 28.20
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available