D5N (p.Asp5Asn) variant of TULP1 (Tubby-related protein 1)
D5N (p.Asp5Asn) in TULP1 (Tubby-related protein 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
D5N (p.Asp5Asn) variant details
- p.Asp5Asn
- NCI-TCGA Cosmic COSV5769
- cosmic curated COSV57692
- gnomAD rs1761241829
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 12.90
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available