M135V (p.Met135Val) variant of SLC6A4 (P31645)
M135V (p.Met135Val) in SLC6A4 (P31645) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
M135V (p.Met135Val) variant details
- p.Met135Val
- gnomAD rs1274463771
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.49
- MetaLR 0.53
- MetaSVM -0.02
- CADD 23.80
- Most common in the HGDP:BOUGAINVILLE population (allele frequency 1)
- Structural context available