A55V (p.Ala55Val) variant of SLC6A4 (P31645)
A55V (p.Ala55Val) in SLC6A4 (P31645) 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 0.17 / 1. The record also includes population frequency data and structural context.
A55V (p.Ala55Val) variant details
- p.Ala55Val
- rs746829911
- NCI-TCGA Cosmic COSV9991
- cosmic curated COSV99911
- ExAC rs746829911
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.06
- MetaSVM -1.06
- CADD 13.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.55)
- Structural context available