V49I (p.Val49Ile) variant of CSRP3 (P50461)
V49I (p.Val49Ile) in CSRP3 (P50461) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
V49I (p.Val49Ile) variant details
- p.Val49Ile
- gnomAD rs1850561000
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.41
- CADD 18.90
- PolyPhen-2 0.08
- SIFT 0.08
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available