p.Val42 Val44del variant of SFTPC (Surfactant protein C)

Name: SFTPC p.Val42 Val44del variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-21
License: https://catvariant.com/terms-of-use

p.Val42 Val44del in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.

p.Val42 Val44del variant details

rs752666425
gnomAD 8-22162645-CGTGGT
Inframe Deletion
Variant Prioritization Score for Impact Estimate 0.461
CADD 20.40
Most common in the Non-Finnish European population (allele frequency 4.5e-06)
Structural context available
Literature evidence available