K99N (p.Lys99Asn) variant of TULP1 (Tubby-related protein 1)
K99N (p.Lys99Asn) in TULP1 (Tubby-related protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
K99N (p.Lys99Asn) variant details
- p.Lys99Asn
- gnomAD rs1453890817
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.45
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available