M1655V (p.Met1655Val) variant of SCN9A (Nav1.7)
M1655V (p.Met1655Val) in SCN9A (Nav1.7) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Channelopathy-associated congenital insensitivity to pain, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
M1655V (p.Met1655Val) variant details
- p.Met1655Val
- TOPMed rs1426421985
- Likely pathogenic
- Channelopathy-associated congenital insensitivity to pain, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- MetaLR 0.96
- MetaSVM 1.11
- CADD 25.30
- PolyPhen-2 0.97
- SIFT 0.02
- ClinVar: Likely pathogenic (Channelopathy-associated congenital insensitivity to pain, autos)
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available