A75V (p.Ala75Val) variant of SFTPC (Surfactant protein C)
A75V (p.Ala75Val) in SFTPC (Surfactant protein C) 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 0.54 / 1. The record also includes population frequency data and structural context.
A75V (p.Ala75Val) variant details
- p.Ala75Val
- rs1000316822
- NCI-TCGA Cosmic COSV5934
- cosmic curated COSV59345
- TOPMed rs1000316822
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- CADD 23.40
- PolyPhen-2 0.78
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available