V123A (p.Val123Ala) variant of SFTPB (P07988)
V123A (p.Val123Ala) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
V123A (p.Val123Ala) variant details
- p.Val123Ala
- TOPMed rs1677658104
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.37
- CADD 21.00
- PolyPhen-2 0.34
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available